Incidental Mutation 'R3854:Ceacam2'
| ID |
276058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam2
|
| Ensembl Gene |
ENSMUSG00000054385 |
| Gene Name |
CEA cell adhesion molecule 2 |
| Synonyms |
Bgp2 |
| MMRRC Submission |
041605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3854 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25215467-25239282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25238227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 66
(S66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044547]
[ENSMUST00000064862]
[ENSMUST00000066503]
|
| AlphaFold |
Q925P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044547
AA Change: S66G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: S66G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
IG
|
40 |
143 |
4.15e0 |
SMART |
|
IGc2
|
158 |
224 |
1.99e-7 |
SMART |
|
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
|
IGc2
|
337 |
401 |
3.28e-8 |
SMART |
|
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064862
AA Change: S66G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000068540
Gene: ENSMUSG00000054385
AA Change: S66G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
IG_like
|
40 |
143 |
6.69e0 |
SMART |
|
IGc2
|
157 |
221 |
3.28e-8 |
SMART |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066503
AA Change: S66G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385
AA Change: S66G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
IG_like
|
40 |
143 |
6.69e0 |
SMART |
|
IGc2
|
157 |
221 |
3.28e-8 |
SMART |
|
transmembrane domain
|
242 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
| Meta Mutation Damage Score |
0.0897 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific obesity, disruption in glucose homeostasis, hyperphagia, hyperinsulinemia and decreased energy expenditure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
C |
2: 58,352,946 (GRCm39) |
K338R |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,565 (GRCm39) |
P482L |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,156,776 (GRCm39) |
D154G |
probably benign |
Het |
| Apoa1 |
A |
G |
9: 46,141,521 (GRCm39) |
S206G |
probably benign |
Het |
| Aspdh |
T |
C |
7: 44,115,613 (GRCm39) |
V5A |
possibly damaging |
Het |
| Bend3 |
AAGGACCA |
AA |
10: 43,386,713 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,103,808 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
A |
G |
19: 4,889,546 (GRCm39) |
I13V |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,288,525 (GRCm39) |
N319Y |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,789 (GRCm39) |
C441R |
probably damaging |
Het |
| Clstn2 |
G |
A |
9: 97,345,648 (GRCm39) |
Q567* |
probably null |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,765,624 (GRCm39) |
N1093S |
probably benign |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,699,905 (GRCm39) |
A1744T |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbll1 |
T |
A |
11: 35,688,526 (GRCm39) |
T246S |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,243,353 (GRCm39) |
T910S |
probably damaging |
Het |
| Fcna |
C |
T |
2: 25,517,784 (GRCm39) |
G22D |
possibly damaging |
Het |
| Gadl1 |
G |
T |
9: 115,835,732 (GRCm39) |
E387* |
probably null |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Lbr |
G |
A |
1: 181,659,280 (GRCm39) |
T167I |
probably benign |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,308,081 (GRCm39) |
H420R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Or10z1 |
T |
A |
1: 174,077,716 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,161,105 (GRCm39) |
K297* |
probably null |
Het |
| Or51r1 |
T |
G |
7: 102,228,227 (GRCm39) |
L175R |
probably damaging |
Het |
| Pgap3 |
T |
C |
11: 98,281,638 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,653,003 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,752,240 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,137 (GRCm39) |
I188V |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,328,190 (GRCm39) |
I634F |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,917,596 (GRCm39) |
C485S |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,058 (GRCm39) |
M33L |
probably benign |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
|
| Other mutations in Ceacam2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Ceacam2
|
APN |
7 |
25,237,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01606:Ceacam2
|
APN |
7 |
25,230,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02106:Ceacam2
|
APN |
7 |
25,230,166 (GRCm39) |
missense |
probably benign |
|
|
IGL02506:Ceacam2
|
APN |
7 |
25,227,379 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02820:Ceacam2
|
APN |
7 |
25,219,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Ceacam2
|
UTSW |
7 |
25,220,356 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2146:Ceacam2
|
UTSW |
7 |
25,227,368 (GRCm39) |
nonsense |
probably null |
|
|
R4887:Ceacam2
|
UTSW |
7 |
25,220,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6480:Ceacam2
|
UTSW |
7 |
25,219,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6533:Ceacam2
|
UTSW |
7 |
25,230,136 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6709:Ceacam2
|
UTSW |
7 |
25,229,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6711:Ceacam2
|
UTSW |
7 |
25,238,295 (GRCm39) |
missense |
probably benign |
|
|
R6853:Ceacam2
|
UTSW |
7 |
25,217,561 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7177:Ceacam2
|
UTSW |
7 |
25,220,341 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7548:Ceacam2
|
UTSW |
7 |
25,229,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Ceacam2
|
UTSW |
7 |
25,227,333 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7709:Ceacam2
|
UTSW |
7 |
25,238,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8378:Ceacam2
|
UTSW |
7 |
25,217,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8527:Ceacam2
|
UTSW |
7 |
25,238,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8878:Ceacam2
|
UTSW |
7 |
25,227,351 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9186:Ceacam2
|
UTSW |
7 |
25,227,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9321:Ceacam2
|
UTSW |
7 |
25,230,089 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACATGAAATTGTCCAGTCAGG -3'
(R):5'- GCTGAGAGGTTTTGCAAAGGTC -3'
Sequencing Primer
(F):5'- GTCAGGACCCTACGACGATAG -3'
(R):5'- TGCAAAGGTCCTAAGATTGATAGGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation